Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.S157S

VSX2

146 papers

RefSeq Summary

This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provi...

Pfam Domains

Homeodomainaa 149–205UCSCHomeodomain
OARaa 300–318UCSCOAR motif

Gene Aliases

HGNC Name

visual system homeobox 2

HGNC Previous Symbols

HOX10; CHX10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
7 papers
NM_182894.3
p.S157S
c.471C>T
Surrounding Variants
2 papers
NM_182894.3
p.T156A
c.466A>G
1 paper
NM_182894.3
p.Q159Q
c.477G>A
1 paper
NM_182894.3
p.E161*
c.481G>T
1 paper
NM_182894.3
p.T153fs
c.457_458fs
2 papers
NM_182894.3
p.R152Splc
c.456-2A>G
2 papers
NM_182894.3
p.R152Splc
c.456-6C>G
1 paper
NM_182894.3
p.A166_E169del0
c.498_506del9
1 paper
NM_182894.3
p.E169K
c.505G>A
1 paper
NM_182894.3
p.E169fs
c.505_506fs
1 paper
NM_182894.3
p.E169delFs
c.506delA
1 paper
NM_182894.3
p.V175L
c.523G>C
1 paper
NM_182894.3
p.Y176*
c.528T>A
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